المؤلفون: Mattman, Andre, Gilfix, Brian M., Chen, Sharon Xuehui, DeMarco, Mari L., Kyle, Barry D., Parker, Michelle L., Agbor, Terence A., Jung, Benjamin, Selvarajah, Shamini, Barakauskas, Vilte E., Vaags, Andrea K., Estey, Mathew P., Nelson, Tanya N., Speevak, Marsha D.

المصدر: In Clinical Biochemistry July 2020 81:27-33

المؤلفون: Chénier, Sébastien, Yoon, Grace, Argiropoulos, Bob, Lauzon, Julie, Laframboise, Rachel, Ahn, Joo Wook, Ogilvie, Caroline Mackie, Lionel, Anath C, Marshall, Christian R, Vaags, Andrea K, Hashemi, Bita, Boisvert, Karine, Mathonnet, Géraldine, Tihy, Frédérique, So, Joyce, Scherer, Stephen W, Lemyre, Emmanuelle, Stavropoulos, Dimitri J

المصدر: Journal of Neurodevelopmental Disorders. 6(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Genetics, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Fetal Tissue, Pediatric, Biotechnology, Autism, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Autism spectrum disorder, CHD2, Developmental delay, Epilepsy, Learning disability, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1kr700gv

المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W

المصدر: Human Molecular Genetics. 23(10)

مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/59x2g1gf

المؤلفون: Bell, Kathleen Anne, Kim, Raymond, Aronson, Melyssa, Gillies, Brittany, Awan, Arif Ali, Chun, Kathy, Hart, Jennifer, Healey, Rachel, Kim, Linda, Klaric, Goran, Panabaker, Karen, Sabatini, Peter J. B., Sadikovic, Bekim, Selvarajah, Shamini, Smith, Amanda C., Stockley, Tracy L., Vaags, Andrea K., Eisen, Andrea, Pollett, Aaron, Feilotter, Harriet

المصدر: Journal of Medical Genetics; Aug2023, Vol. 60 Issue 8, p769-775, 7p

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المؤلفون: Grafodatskaya, Daria, O’Rielly, Darren D, Bedard, Karine, Butcher, Darci T, Howlett, Christopher J, Lytwyn, Alice, McCready, Elizabeth, Parboosingh, Jillian, Spriggs, Elizabeth L, Vaags, Andrea K, Stockley, Tracy L

المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 8 p727-736, 10p

المؤلفون: Mighton, Chloe, Smith, Amanda C, Mayers, Justin, Tomaszewski, Robert, Taylor, Sherryl, Hume, Stacey, Agatep, Ron, Spriggs, Elizabeth, Feilotter, Harriet E, Semenuk, Laura, Wong, Henry, Lazo de la Vega, Lorena, Marshall, Christian R, Axford, Michelle M, Silver, Talia, Charames, George S, Di Gioacchino, Vanessa, Watkins, Nicholas, Foulkes, William D, Clavier, Marcos, Hamel, Nancy, Chong, George, Lamont, Ryan E, Parboosingh, Jillian, Karsan, Aly, Bosdet, Ian, Young, Sean S, Tucker, Tracy, Akbari, Mohammad Reza, Speevak, Marsha D, Vaags, Andrea K, Lebo, Matthew S, Lerner-Ellis, Jordan

المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 6 p571-578, 8p

المؤلفون: Pal, Deb, Addis, Laura, Ahn, Joo Wook, Dobson, Richard, Dixit, Abhishek, Ogilvie, Caroline, Pinto, Dalila, Vaags, Andrea K., Coon, Hilary, Chaste, Pauline, Wilson, Scott, Parr, Jeremy R., Andrieux, Joris, lenne, bruno, turner, zeynep, leuzzi, vincenzo, aubell, kristina, koillinen, hannele, Curran, Sarah, Marshall, Christian R., Scherer, Stephen W., Strug, Lisa J.

المصدر: Pal, D, Addis, L, Ahn, J W, Dobson, R, Dixit, A, Ogilvie, C, Pinto, D, Vaags, A K, Coon, H, Chaste, P, Wilson, S, Parr, J R, Andrieux, J, lenne, B, turner, Z, leuzzi, V, aubell, K, koillinen, H, Curran, S, Marshall, C R, Scherer, S W & Strug, L J 2015, ' Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and epilepsy ' .

مصطلحات موضوعية: mental disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2761::40c3b9de8f3e8e5bccc0a1b86b2d556c
https://kclpure.kcl.ac.uk/portal/en/publications/microdeletions-of-elp4-are-associated-with-language-impairment-autism-spectrum-disorder-and-epilepsy(8d571038-c7c6-4347-b26b-2c289eb3af06).html